Down's Syndrome

Question 1

What genetic defect is present in down’s syndrome?

Answer 1

Trisomy 21 - extra chromosome 21

Question 2

What facial appearence do those with down’s syndrome characteristically have?

Answer 2

• Flat facial profile
• Low set, Dysplastic ears
• Short neck
• Upslanting palpebral fissure
• Flattened nasal bridge
• Epicanthal fold
• Brushfield spots

Question 3

What are features of down’s syndrome?

Answer 3

• Characteristic faces
• Abundent neck skin
• Muscle hypotonia
• Single palmar crease
• Protruding tongue
• Broad hands
• Mental/growth retardation
• Pelvic dysplasia
• CArdiac malformation
• Hypoplasia of middlephalanx of 5th finger
• Intestinal atresia
• High arched palate
• Sandle-gap deformity

Question 4

What cardiac malformations is down’s syndrome associated with?

Answer 4

• AVSD
• PDA
• VSD

Question 5

What intestinal problems can occur in down’s syndrome?

Answer 5

• Duodenal atresia
• Hirschprungs disease
• Coeliac disease

Question 6

What proportion of those with down’s syndrome have cardiac malformations?

Answer 6

40%

Question 7

Why do those with down’s syndrome have hearing impairment?

Answer 7

Due to secretory otitis media

Question 8

What endocrine disorder is commonly associated with down’s syndrome?

Answer 8

Hypothyroidism

Question 9

What neurological problems are those with down’s syndrome at risk of?

Answer 9

• Epilepsy
• Alzheimer’s dsease
• Mental retardation

Question 10

What neoplastic problems are those with down’s at increased risk of developing?

Answer 10

Leukaemia

Question 11

What are the main cytogenetic faults that can cause trisomy 21?

Answer 11

• Meiotic non-dysjunction
• Translocation
• Mosaicism

Question 12

What is the risk of having a down’s syndrome child at age 40?

Answer 12

1 in 110

Question 13

What is the most common mode of inheritence of down’s syndrome?

Answer 13

Non-dysjunction